GWAS catalog

GWAS Catalog aggregates curated results and metadata from published genome-wide association studies (GWAS), focusing on single-nucleotide polymorphism (SNP)–trait associations from studies assaying at least 100,000 SNPs and reporting associations with P < 1×10^-5.

Key Features:

• Curated Data Collection: As of September 2018, contains data from 5,687 GWAS, encompassing 71,673 variant–trait associations derived from 3,567 publications, including 11,912 SNPs and 1,751 curated publications.
• Summary statistics datasets: Provides 284 full P-value summary statistics datasets for genome-wide and targeted array studies representing over 600 million individual variant–trait statistics.
• Assay and technology scope: Includes data from genome-wide arrays, targeted arrays, exome arrays, and sequencing studies and incorporates approximately 1,000 new associations from targeted and exome array technologies.
• Structured ancestry and recruitment metadata: Records structured ancestry and recruitment information for all studies.
• Data formats and knowledge representation: Disseminates data in tab-delimited files and an OWL knowledge base.
• Summary statistics standardization: Supports a proposed community standard format for summary statistics to standardize heterogeneous submissions and harmonize content.

Scientific Applications:

• Causal variant identification: Enables identification and prioritization of candidate causal variants underlying trait associations.
• Disease mechanism elucidation: Facilitates investigation of genetic contributions to disease mechanisms through aggregated SNP–trait associations.
• Therapeutic target discovery: Supports discovery and validation of potential targets for novel therapies based on association signals.
• Population and study-design comparisons: Allows exploration of genetic associations across diverse populations, ancestry annotations, and different study designs and technologies.

Methodology:

Utilizes an OWL knowledge base and ontology-supported methods and performs summary-statistics standardization and harmonization of heterogeneous submissions.